Mégarbané A, Ghanem I, Romana S, Gosset P, Caillaud C
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Genet Couns. 2002;13(2):123-31.
Severe mental retardation, congenital contractures, short stature, microcephaly, ptosis, myopia, beaked nose, abnormal teeth, hip dislocation, and severe scoliosis, are described in a 16-year-old and an unrelated 24-year-old females. Results of all laboratory investigations were normal. Review of the literature, of the London Dysmorphology Data Base and POSSUM did not yield to any diagnosis. Whether these patients present a new MCA/MR syndrome is discussed.
一名16岁女性和一名与之无关的24岁女性被描述患有严重智力发育迟缓、先天性挛缩、身材矮小、小头畸形、上睑下垂、近视、钩状鼻、牙齿异常、髋关节脱位和严重脊柱侧弯。所有实验室检查结果均正常。查阅文献、伦敦畸形数据库和POSSUM均未得出任何诊断结论。文中讨论了这些患者是否呈现一种新的MCA/智力发育迟缓综合征。
